Canonical Allele Identifier: CA1139661307

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132329735_132329742del , CM000671.2:g.132329735_132329742del	GRCh38
NC_000009.11:g.135205122_135205129del , CM000671.1:g.135205122_135205129del	GRCh37
NC_000009.10:g.134194943_134194950del	NCBI36
NG_007946.1:g.30244_30251del , LRG_268:g.30244_30251del

Transcript Alleles

HGVS	Amino-acid Change
NM_015046.7:c.1856_1863del MANE Select	NP_055861.3:p.Tyr619Ter
ENST00000224140.6:c.1856_1863del MANE Select	ENSP00000224140.5:p.Tyr619Ter
NM_001351527.1:c.1856_1863del	NP_001338456.1:p.Tyr619Ter
NM_001351527.2:c.1856_1863del	NP_001338456.1:p.Tyr619Ter
NM_001351528.1:c.1856_1863del	NP_001338457.1:p.Tyr619Ter
NM_001351528.2:c.1856_1863del	NP_001338457.1:p.Tyr619Ter
NM_015046.5:c.1856_1863del , LRG_268t1:c.1856_1863del	NP_055861.3:p.Tyr619Ter
NM_015046.6:c.1856_1863del	NP_055861.3:p.Tyr619Ter
ENST00000224140.5:c.1856_1863del	ENSP00000224140.5:p.Tyr619Ter
XM_005272171.1:c.1856_1863del	XP_005272228.1:p.Tyr619Ter
XM_005272172.1:c.1856_1863del	XP_005272229.1:p.Tyr619Ter
XM_005272172.3:c.1856_1863del	XP_005272229.1:p.Tyr619Ter
XM_005272173.1:c.1856_1863del	XP_005272230.1:p.Tyr619Ter
XM_005272173.3:c.1856_1863del	XP_005272230.1:p.Tyr619Ter
XM_011518404.1:c.1856_1863del	XP_011516706.1:p.Tyr619Ter
XM_011518404.3:c.1856_1863del	XP_011516706.1:p.Tyr619Ter
XM_011518405.1:c.1856_1863del	XP_011516707.1:p.Tyr619Ter
XM_011518405.3:c.1856_1863del	XP_011516707.1:p.Tyr619Ter
XM_011518406.1:c.1856_1863del	XP_011516708.1:p.Tyr619Ter
XM_011518406.2:c.1856_1863del	XP_011516708.1:p.Tyr619Ter
XM_011518407.1:c.1856_1863del	XP_011516709.1:p.Tyr619Ter
XM_011518408.1:c.1856_1863del	XP_011516710.1:p.Tyr619Ter
XM_011518408.3:c.1856_1863del	XP_011516710.1:p.Tyr619Ter
XR_001746251.1:n.2040_2047del
XR_929739.1:n.2040_2047del
XR_929739.2:n.2040_2047del